| EX0211 BIOTINIDASE NEWBORN SCREEN |
| Specimen: |
1 drop of heel prick blood each on 3 spots of filter paper available from LPL. Ship refrigerated or frozen. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 2 hrs |
1 week |
1 week |
|
| Method: |
Fluoroimmunoassay |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
Biotinidase deficiency is an autosomal recessive disorder caused by mutations in the biotinidase gene. Age of onset and clinical phenotype varies depending on the amount of residual Biotinidase activity. The combined incidence of profound and partial Biotinidase deficiency is 1 in 61000. The carrier frequency in the general population is 1 in 120. This assay is used for diagnosing biotinidase deficiency. It is also useful for follow-up testing for certain Organic acidurias. |
| Doctor Specialty: |
Pediatrician |
| Disease: |
Inborn errors of metabolism |
| Components: |
|
| Courier Charges: |
0.00 |
| Home Collection: |
Available (*T&C Apply) |
| Department: |
GENETICS |
| Pre Test Information: |
No special preparation required |
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